Search Ontology:
Human Disease

Refsum disease

Term ID
DOID:10582
Synonyms
  • adult Refsum disease
  • classic Refsum disease
  • Heredopathia atactica polyneuritiformis
  • HMSN type IV
  • HSMN IV
  • phytanic acid oxidase deficiency
  • Refsum's disease
Definition
A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (4)
References
  • GARD:5691
  • ICD10CM:G60.1
  • ICD9CM:356.3
  • MESH:D012035
  • MIM:266500
  • NCI:C85043
  • ORDO:773
  • SNOMEDCT_US_2023_03_01:25362006
  • UMLS_CUI:C0034960
Ontology
Human Disease   ( DOID:10582 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.